F8L (p.Phe8Leu) variant of CASK (O14936)
F8L (p.Phe8Leu) in CASK (O14936) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, experimental measurements, and structural context.
F8L (p.Phe8Leu) variant details
- p.Phe8Leu
- ExAC rs773495975
- gnomAD rs773495975
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.23
- CADD 23.10
- PolyPhen-2 0.12
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- CASK PDZ domain domainome 1.0: score -0.093